Variant report

Variant	rs56276963
Chromosome Location	chr8:38969975-38969976
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12542595	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34723835	0.83[AFR][1000 genomes]
rs6474105	0.81[EUR][1000 genomes]
rs6982058	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9792291	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021581	chr8:38934014-39043954	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv1015907	chr8:38967169-39718559	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv539550	chr8:38967169-39718559	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38919000-38970400	Weak transcription	K562	blood
2	chr8:38961200-38970200	Weak transcription	HMEC	breast
3	chr8:38961600-38970000	Weak transcription	GM12878-XiMat	blood
4	chr8:38963200-38970000	Weak transcription	NH-A	brain
5	chr8:38964200-38970400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:38964400-38970400	Weak transcription	HSMM	muscle
7	chr8:38964800-38970000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr8:38965400-38970200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr8:38965400-38970200	Weak transcription	HUVEC	blood vessel
10	chr8:38965600-38970000	Weak transcription	NHLF	lung
11	chr8:38965600-38970200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:38965600-38970200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:38965800-38970000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:38965800-38970200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:38965800-38970600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:38966000-38970200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:38966000-38970400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:38966400-38970200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:38968200-38970200	Weak transcription	A549	lung
20	chr8:38969800-38971400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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